Similar articles for PMID: 28497574

Year	Number of Results
1975	1
1983	1
1990	1
1991	2
1992	1
1993	2
1996	1
1997	1
1998	2
2000	2
2001	3
2002	3
2003	1
2004	3
2005	5
2006	11
2007	10
2008	2
2009	7
2010	5
2011	4
2012	14
2013	8
2014	8
2015	12
2016	17
2017	12
2018	9
2019	13
2020	15
2021	7
2022	8
2023	2
2024	0

1

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.

Plessl T, Bürer C, Lutz S, Yue WW, Baumgartner MR, Froese DS. Plessl T, et al. Hum Mutat. 2017 Aug;38(8):988-1001. doi: 10.1002/humu.23251. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28497574 Free article.

2

Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.

Froese DS, Kochan G, Muniz JR, Wu X, Gileadi C, Ugochukwu E, Krysztofinska E, Gravel RA, Oppermann U, Yue WW. Froese DS, et al. J Biol Chem. 2010 Dec 3;285(49):38204-13. doi: 10.1074/jbc.M110.177717. Epub 2010 Sep 28. J Biol Chem. 2010. PMID: 20876572 Free PMC article.

3

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B. Martínez MA, et al. Mol Genet Metab. 2005 Apr;84(4):317-25. doi: 10.1016/j.ymgme.2004.11.011. Epub 2005 Jan 22. Mol Genet Metab. 2005. PMID: 15781192

4

Isolated Methylmalonic Acidemia.

Manoli I, Sloan JL, Venditti CP. Manoli I, et al. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301409 Free Books & Documents. Review.

5

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Keyfi F, Abbaszadegan MR, Sankian M, Rolfs A, Orolicki S, Pournasrollah M, Alijanpour M, Varasteh A. Keyfi F, et al. Mol Biol Rep. 2019 Feb;46(1):271-285. doi: 10.1007/s11033-018-4469-0. Epub 2019 Feb 2. Mol Biol Rep. 2019. PMID: 30712249

6

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR. Haarmann A, et al. Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17. Mol Genet Metab. 2013. PMID: 24095221 Free article.

7

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER. Hörster F, et al. Pediatr Res. 2007 Aug;62(2):225-30. doi: 10.1203/PDR.0b013e3180a0325f. Pediatr Res. 2007. PMID: 17597648

8

Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.

Shafaat M, Alaee MR, Rahmanifar A, Setoodeh A, Razzaghy-Azar M, Bagherian H, Bagheri SD, Zafarghandi Motlagh F, Hashemi M, Abiri M, Zeinali S. Shafaat M, et al. Metab Brain Dis. 2018 Oct;33(5):1689-1697. doi: 10.1007/s11011-018-0277-4. Epub 2018 Jul 18. Metab Brain Dis. 2018. PMID: 30022420

9

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493

10

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.

Lin Y, Lin C, Lin W, Zheng Z, Han M, Fu Q. Lin Y, et al. BMC Med Genet. 2018 Jul 11;19(1):114. doi: 10.1186/s12881-018-0635-4. BMC Med Genet. 2018. PMID: 29996803 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

166 results

Results by year